Treatment of WAS
Coping with WAS
Wiskott-Aldrich Syndrome (WAS) is a genetically inherited immunodeficiency disease that occurs almost exclusively in males. WAS comprises of a group of serious, but rare disorders, affecting 1 in 250,000 males. It affects the function of the white blood cells, making these patients susceptible to serious infections. There is also a significant reduction in the size and number of platelets (microthrombocytopenia), causing these patients to bleed easily. WAS is caused by mutations or defects in the WAS protein gene - the WASP gene. Affected patients show a wide variation in the severity of the disease. Severely affected patients typically have excessive bleeding, are at risk of serious infections, have eczema, and are at a high risk of developing autoimmune disorders and certain types of cancer.
The disease is named after two physicians who first recognized the disorder. It was first described in 1937 by Dr. Alfred Wiskott, a German pediatrician who noticed a bleeding disorder due to low platelets that ran only in boys in a family. In 1954, Dr. Robert Aldrich, an American pediatrician, studied seven generations of an affected family and showed that this disease is passed on from mothers to their sons.
Just a few decades ago, Wiskott-Aldrich Syndrome was considered one of the most serious of all immune deficiency disorders. Children with more severe forms rarely made it past five years of age. A bone marrow transplant is the only known cure. The earliest patients who received transplants are now in their third and fourth decade and are leading relatively normal lives. From the mid 2000’s, gene therapy has emerged as a potential cure, and several clinical trials are in progress in Europe and in the U.S.
This website answers the common questions asked by families of children with WAS. Included are the latest advances in medical care, clinical trials, and resources for families.